Neuromuscular Update

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Neuromuscular Update

• Cheryl Longman

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Neuromuscular Update

• Managed Clinical Network Mackie report
• Myotonic Dystrophy
• Cardiac management of muscle disease
• Research projects

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Scottish Muscle MCN Structure

• Lead clinician Karen Naismith
• Adult lead Richard Petty
• Subgroups Chairs
• Myotonic dystrophy Cheryl
• Paediatric Robert McWilliam
• Physiotherapy Marina di Marco
• Service users Jon Fleming
• Transition Marina di Marco
• Steering group Alison, Anne-Marie, Cheryl,
  Douglas, Gill, Helen, Yvonne, Vicky, Wilma

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Scottish Muscle MCN www.smn.scot.nhs.uk

• Guidelines/Care Pathways/Clinical Standards
• Clinical Governance meeting
• Service mapping exercise Mackie report
• Denmark trip
• Self Directed Support project
• Links with spinal services, SPRING, Inherited
  cardiac conditions group
• Education difficult cases meeting

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Myotonic Dystrophy Patients
Pre Prior to invitations being sent, 2008-early
2009. Post 2010 at least 9 months after invites
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Findings in 284 patients seen in Glasgow,
Edinburgh, Dundee
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Standard Statement 1 All patients with a
clinical diagnosis of DM1 should have molecular
confirmation of diagnosis.

• Essential Criterion
• 95 of patients attending a specialist management
  clinic have a molecular diagnosis of DM1 (97)

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Standard Statement 2 Patients with DM1 have an
annual review at a clinic that follows the SMN
Management Guidelines Management of adults with
Myotonic Dystrophy
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• Essential Criteria
• 90 of patients attending a specialist management
  clinic are reviewed annually
• 90 of patients who do not attend an appointment
  at a specialist management clinic are offered a
  further clinic appointment (100)
• In 90 of cases where patients have not attended
  two consecutive invitations to a specialist
  management clinic, their GP is informed and sent
  a copy of the SMN leaflet Management of Adults
  with Myotonic Dystrophy (67)
• Desirable Criterion
• 90 of patients with DM1 not attending a hospital
  clinic for their DM1 are offered an appointment
  at a specialist management clinic (90)

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Standard Statement 3 Patients with DM1 receive
appropriate monitoring and referrals according to
the SMN Management Guidelines Management of
adults with Myotonic Dystrophy A guide for
professionals
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• Cardiology Essential Criterion
• 90 of patients attending a specialist management
  clinic receive an automated ECG, unless they
  either have a pacemaker, an ICD, or are under
  active management by a cardiologist. (90)

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• Respiratory/Sleep Essential Criteria
• 90 of patients attending a specialist management
  clinic have their Epworth Sleepiness Score (ESS)
  assessed (100)
• 90 of patient attending a specialist management
  clinic are offered referral to a respiratory
  service, if they have not previously been
  investigated, for dyspnoea lying flat, worsening
  dyspnoea, morning headaches, respiratory
  infection requiring consecutive antibiotics in
  the past year (more than one course of
  antibiotics for the same infection), ESS of
  greater than 12 (90)

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• Endocrine Essential Criteria
• 90 of patients attending a specialist management
  clinic have a random blood glucose (RGB)
  recorded, unless known to be diabetic (81)
• 90 of patients attending a specialist management
  clinic with a RBG over 11mmol/L and diabetic
  symptoms are referred to a diabetic clinic,
  unless known to be diabetic (N/A)
• 90 of patient attending a specialist management
  clinic with a RBG over 6mmol/L, without diabetic
  symptoms, are referred to their GP for follow up,
  unless known to be diabetic (100)
• 90 of patients attending a specialist management
  clinic have thyroid function measured, unless
  known to have thyroid disease (92)
• 90 of patients attending a specialist management
  clinic with abnormal thyroid function test are
  referred to their GP for management, unless known
  to have thyroid disease (100)

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Standard Statement 4 Patients with DM1 are
given details of appropriate information and
support
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• Essential Criteria
• 90 of patients attending a specialist management
  clinic are given a care or alert card, if they do
  not have one with them at clinic (100)
• 90 of patients attending a specialist management
  clinic are given details of the Muscular
  Dystrophy Campaign Care Advisor and the DM1
  support group (93)
• 90 of patients attending a specialist management
  clinic are offered preconception genetic
  counselling, if appropriate (100)
• 90 of patients attending a specialist management
  clinic are advised of general anaesthetic and
  sedation risks (97)

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National Advisory Committee On Heart Disease
Inherited Cardiac Conditions Grp

• June meeting proposed endorsing ENMC 2003
  guidelines
• Laminopathy ICDs for all with CCD /or LV
  systolic dysfunction. Gene positive patients
  without these should be followed at least
  annually with ECG, 24hr ECG, echo.
• Sep meeting proposed setting up email group of
  interested cardiologists to address
• Referral/re-referral triggers for patients with
  abnormal ECG
• PPM/ICD insertion guidelines
• Role of EP studies in borderline PR

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DMD/BMD Carrier Echoes

• SMN Steering Group 2009 (n10)
• All for informing carriers, via GP, wording
  important
• Family discussions (19 parents, 6 adults with
  other NMD)
• 24/25 for informing carriers
• Fairness / withholding information / via GP but
  easy access to Genetics advice
• Standard strategy, letters and info. leaflets
• First echoes organised by Genetics
• Patients trigger future echoes via Genetics
• Named cardiologists link with each Genetic centre
• Pilot in Dundee

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Research, Trials Trial Readiness

• Genetic variation in DM1 72 recruited
• Guthrie card study target 100
• Other cases target 100
• Disease registries
• DMD, SMA
• UK Clinical Trials / TREAT NMD
• PTC124 study completed
• DMD ASO exon 51 skipping recruiting

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Acknowledgements
Steve Banham Nicola Bradshaw Paul
Broadhurst Margaret Bowler Anne Marie Choy Laura
Craig Ken Dagg Richard Davenport John Dean Martin
Denvir Jaqueline Donnachie Hamish Dougall Graham
Douglas Maureen Edwards Maria Farrugia Iain
Findlay Patrick Fitch
Carol Gardiner David Goudie Ian Grant Helen
Gregory Gillian Hall Andrew Hannah Russell
Hewett Geoff Hulks Shelagh Joss Esther
Kinning Anne Lampe Ruth McGowan Tom
MacKay Catherine McWilliam Darren Monckton
Christine Murphy Elycia Ormandy
Margaret ONeil Irene Parsons Gill Paton John
Payne Richard Petty Yvonne Robb Karyn
Robertson Sheila Simpson Lance Sloan Robin
SmithLesley Snadden Wilma Stewart Uwe
Spelmeyer Robert Swingler Anne-Marie Taylor
Alison Wilcox Douglas Wilcox